ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.597A>G (p.Thr199=)

dbSNP: rs1555014527
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002234532 SCV000764148 likely benign Ataxia-telangiectasia-like disorder 2017-09-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV001024738 SCV001186812 likely benign Hereditary cancer-predisposing syndrome 2019-07-20 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign

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